Vitreoretinal Surgery for Severe Retinal Capillary Hemangiomas in Von Hippel–Lindau Disease

doi:10.1016/j.ophtha.2010.04.031

Ophthalmology

Volume 118, Issue 1, January 2011, Pages 142-149

https://doi.org/10.1016/j.ophtha.2010.04.031 Get rights and content

Purpose

To evaluate the long-term success rate of vitreoretinal surgery for severe cases of retinal capillary hemangiomas (RCHs) caused by von Hippel–Lindau (VHL) disease.

Design

Retrospective case series.

Participants

Twenty-three eyes of 21 patients with severe exudative or tractional retinal detachment caused by RCH, who had undergone vitreoretinal surgery. Patients' age at initial surgery ranged from 12 to 47 years (median, 27 years), and the fellow eye was already blind in 6 of 21 patients.

Interventions

All eyes underwent pars plana vitrectomy with posterior hyaloid detachment epiretinal membrane dissection and silicone oil or gas injection. In 9 eyes, retinectomy was performed to remove the RCH (group R). In the other 14 eyes, the RCH was treated by laser endophotocoagulation alone or combined with transscleral cryotherapy (group L).

Main Outcome Measures

Visual acuity (preoperative, 6 and 18 months postoperatively), rate of RCH recurrence, and postoperative complications.

Results

In group R, an average of 2 operations per patient was needed. Six months after surgery, the retina was flat in 8 eyes. Mean follow-up was 8 years. Long-term complications included RCH reproliferation and neovascular glaucoma in 4 eyes, 4 to 8 years after initial surgery. In the remaining 5 eyes, visual acuity ranged from 20/320 to counting fingers 18 months postoperatively. In group L, an average of 1.7 operations was needed. Six months after surgery, the retina was flat in 13 of 14 eyes. Mean follow-up was 4 years. New RCH occurred in 10 eyes and required laser treatment. In the long term, 1 eye became blind after 5 years because of aggressive RCH reproliferation and neovascular glaucoma, and 2 eyes became blind after 10 years because of exudative retinal detachment. In the 11 remaining eyes, visual acuity ranged from 20/320 to 20/20 (median: 20/50) 18 months postoperatively.

Conclusions

Vitreoretinal surgery is an effective treatment for severe VHL retinal hemangiomas. Large RCHs were satisfactorily treated by (1) vitrectomy with epiretinal dissection and endolaser photocoagulation or (2) retinectomy for RCH resection, although a high rate of vision-threatening RCH recurrence was observed in the long term. However in most cases, surgery improved or prolonged visual function in these eyes.

Financial Disclosure(s)

The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Section snippets

Materials and Methods

The present work is a retrospective review of the case notes for 21 patients (23 eyes) presenting with VHL disease, operated on for complicated RCH between 1991 and 2008. This case series was part of a cohort of 110 patients with VHL who were followed up in the French VHL reference center and in a reference center for rare retinal vascular diseases. Institutional review board/ethics committee approval was not required for this retrospective study. The 21 patients comprised 9 men and 12 women,

Ocular Status at Presentation

In 22 of 23 eyes, the RCHs were too large or thick to be successfully treated by laser or cryotherapy alone. In 8 eyes, the RCHs failed to respond to one or both of these treatments; 21 eyes exhibited exudative and tractional macular detachment, 11 eyes exhibited peripheral exudative and tractional retinal detachment, 1 eye exhibited rhegmatogenous retinal detachment, and 12 eyes exhibited a combination of these conditions.

Group R, 9 Eyes, Postoperative Course

The mean follow-up period after the initial surgery was 96 months

Discussion

Although it was hoped that better understanding of the major role played by the VHL protein in angiomatous proliferation of VHL disease would enable anti-angiogenic treatments to promote RCH regression,20, 21 these treatments have not thus far proved able to induce such regression. The standard treatment of small- and medium-sized RCH (up to 2 disk diameters) therefore remains laser photocoagulation or cryotherapy. However, there are cases in which laser and cryotherapy are ineffective or

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Cited by (61)

Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease
2024, Ophthalmology
To develop guidelines for ocular surveillance and early intervention for individuals with von Hippel-Lindau (VHL) disease.
Systematic review of the literature.
Expert panel of retina specialists and ocular oncologists.
A consortium of experts on clinical management of all-organ aspects of VHL disease was convened. Working groups with expertise in organ-specific features of VHL disease were tasked with development of evidence-based guidelines for each organ system. The ophthalmology subcommittee formulated questions for consideration and performed a systematic literature review. Evidence was graded for topic quality and relevance and the strength of each recommendation, and guideline recommendations were developed.
The quality of evidence was limited, and no controlled clinical trial data were available. Consensus guidelines included: (1) individuals with known or suspected VHL disease should undergo periodic ocular screening (evidence type, III; evidence strength, C; degree of consensus, 2A); (2) patients at risk of VHL disease, including first-degree relatives of patients with known VHL disease, or any patient with single or multifocal retinal hemangioblastomas (RHs), should undergo genetic testing for pathologic VHL disease gene variants as part of an appropriate medical evaluation (III/C/2A); (3) ocular screening should begin within 12 months after birth and continue throughout life (III/C/2A); (4) ocular screening should occur approximately every 6 to 12 months until 30 years of age and then at least yearly thereafter (III/C-D/2A); (5) ocular screening should be performed before a planned pregnancy and every 6 to 12 months during pregnancy (IV/D/2A); (6) ultra-widefield color fundus photography may be helpful in certain circumstances to monitor RHs, and ultra-widefield fluorescein angiography may be helpful in certain circumstances to detect small RHs (IV/D/2A); (7) patients should be managed, whenever possible, by those with subspecialty training, with experience with VHL disease or RHs, or with both and ideally within the context of a multidisciplinary center capable of providing multiorgan surveillance and access to genetic testing (IV/D/2A); (8) extramacular or extrapapillary RHs should be treated promptly (III/C/2A).
Based on available evidence from observational studies, broad agreement was reached for a strategy of lifelong surveillance and early treatment for ocular VHL disease. These guidelines were endorsed by the VHL Alliance and the International Society of Ocular Oncology and were approved by the American Academy of Ophthalmology Board of Trustees.
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Vitreoretinal Surgery for Retinal Capillary Hemangiomas With Retinal Detachment
2023, Asia-Pacific Journal of Ophthalmology
Double peeling and endolaser ablation for retinal detachment in von Hippel-Lindau disease
2022, American Journal of Ophthalmology Case Reports
Citation Excerpt :
Although vitreoretinal surgery has been described by some authors for excision or ablation of RHs in patients with VHLD, this procedure is associated with high rates of complications, including hemorrhages, recurrent retinal detachments, and neovascular glaucoma.1–3,5 In the Gaudric and Krzystolik series, many individuals experienced persistent, significant visual loss and few achieved a visual acuity better than 20/40.5–7 These results may have been related to recurrent loss of the blood-retinal barrier leading to scarring at the vitreoretinal interface.
To describe a successful surgical approach to macula-off retinal detachment in von Hippel-Lindau disease.
A 28-year-old male with a history of von Hippel-Lindau disease presented to us with significant worsening of vision in his single functional eye after undergoing a cryotherapy and laser session for multiple retinal capillary hemangioblastomas. Given a tractional and exudative retinal detachment involving macula, we performed a vitrectomy, epiretinal membrane peeling, internal limiting membrane peeling, endophotocoagulation of all hemangioblastomas, and fluid-air exchange. Over 30 days, there was total resolution of retinal detachment and improvement of his vision. At 13-month follow-up, the patient exhibited anatomical and functional stability.
Double peeling and endolaser ablation may be an alternative treatment approach for patients with tractional and exudative retinal detachment in von-Hippel-Lindau disease.
Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians
2022, Asian Journal of Urology
Citation Excerpt :
To date, cryotherapy is used only for large size angiomas, located in the extreme periphery, in the presence of lens opacities or with evidence of neuroepithelial detachment around the lesion [47]. Surgical treatment is considered for those cases of partial or non-response to laser photocoagulation or cryotherapy [48]. Via pars plana vitrectomy is performed when angiomas cause fibrous or tractional retinal detachment, epiretinal or vascular proliferation affecting central vision, but require careful attention to several risks [49].
The aim of the current review is to summarize the available evidence to aid clinicians in the surveillance, treatment and follow-up of the different primary tumors developed by patients diagnosed with von Hippel-Lindau (VHL) syndrome.
A non-systematic narrative review of original articles, meta-analyses, and randomized trials was conducted, including articles in the pre-clinical setting to support relevant findings.
VHL disease is the most common rare hereditary disorder associated with clear cell renal cell carcinoma. Affected individuals inherit a germline mutation in one VHL allele, and any somatic event that disrupt the other allele can trigger mutations, chromosomal rearrangements, or epigenetic regulations leading to oncogenesis. From a clinical perspective, patients continuously develop multiple primary tumors.
Because VHL is considered a rare disease, very limited evidence is available for diagnosis, surveillance, active treatment with local or systemic therapy and follow-up.
3-D OCT angiographic evidence of Anti-VEGF therapeutic effects on retinal capillary hemangioma
2022, American Journal of Ophthalmology Case Reports
Citation Excerpt :
Observation alone is warranted for small-sized lesions, in the absence of exudation, and in cases where visual acuity is not threatened.13 For larger tumors and those cases where visual acuity is threatened, treatment modalities including laser photocoagulation,14 cryotherapy,15 photodynamic therapy,16 brachytherapy,17 and various other vitreoretinal procedures18 including intravitreal anti-VEGF injections19 have been employed. VHL pathogenesis is due to the inability of affected cells to degrade hypoxia-inducible factors in the presence of oxygen, resulting in the overproduction of VEGF and other hypoxia-inducible factors.7
To report the impact of intravitreal anti–vascular endothelial growth factor (VEGF) therapy on a retinal capillary hemangioma (RCH) using clinical OCT angiography (OCT-A) in addition to standard imaging modalities.
A 25-year-old male patient with Von Hippel-Lindau (VHL) disease presented with a history of bilateral RCH. No view was present in the right eye. Examination of the left eye revealed six peripheral RCH, the smallest of which was temporal to the macula with active exudation. This RCH was thought to be the source of cystoid macular edema (CME) involving the fovea, and therefore, the source of vision decline. 11 injections of 1.25mg of Bevacizumab EA across 14-month was given. Comparison of the pre- and post-treatment OCT-A at the temporal RCH showed a reduction of CME and regression of RCH.
Anti-VEGF therapy appeared to stabilize the visual acuity and produce partial regression of RCH. It offers a safe option when visual acuity is threatened. OCT and OCT-A have the ability to document the impact of antiangiogenic therapy on RCH. 3D renderings of OCT-A offer enhanced sensitivity to recognition of structural and functional changes of RCH which may prove useful for monitoring treatment response.
Surgical and visual outcomes after vitreoretinal surgery for complex retinal capillary hemangioblastoma
2023, Indian Journal of Ophthalmology

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: Manuscript no. 2009-1602.

: Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

: Supported in part by the Institut National du Cancer and the Ligue Nationale contre le Cancer (France). The funding organizations had no role in the design or conduct of this research.

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Original articleVitreoretinal Surgery for Severe Retinal Capillary Hemangiomas in Von Hippel–Lindau Disease

Purpose

Design

Participants

Interventions

Main Outcome Measures

Results

Conclusions

Financial Disclosure(s)

Section snippets

Materials and Methods

Ocular Status at Presentation

Group R, 9 Eyes, Postoperative Course

Discussion

Ophthalmology

Ophthalmology

Am J Ophthalmol

Am J Ophthalmol

Ophthalmology

Ophthalmology

Ophthalmology

Ophthalmology

Am J Ophthalmol

Lancet

Ophthalmology

Pathogenesis and therapy of traction detachment in various retinal vascular diseases. Am J Ophthalmol

Am J Ophthalmol

Ophthalmology

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study

Invest Ophthalmol Vis Sci

Three cases of large retinal capillary hemangiomas treated with verteporfin and photodynamic therapy

Arch Ophthalmol

Original article
Vitreoretinal Surgery for Severe Retinal Capillary Hemangiomas in Von Hippel–Lindau Disease